Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation

Document Type

Article

Publication Title

Molecular Genetics and Metabolism

Abstract

Pathogenic alterations in the DPM2 gene have been previously described in patients with hypotonia, progressive muscle weakness, absent psychomotor development, intractable seizures, and early death. We identified biallelic DPM2 variants in a 23-year-old male with truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting. His clinical presentation was much less severe than that of the three previously described patients. This is the second report on this ultra-rare disorder. Here we review the characteristics of previously reported individuals with a defect in the DPM complex while expanding the clinical phenotype of DPM2-Congenital Disorders of Glycosylation. In addition, we offer further insights into the pathomechanism of DPM2-CDG disorder by introducing glycomics and lipidomics analysis.

First Page

27

Last Page

37

DOI

10.1016/j.ymgme.2020.10.007

Publication Date

1-1-2021

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